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Aliases for KCTD7 Gene

Aliases for KCTD7 Gene

  • Potassium Channel Tetramerization Domain Containing 7 2 3 5
  • Potassium Channel Tetramerisation Domain Containing 7 2 3
  • BTB/POZ Domain-Containing Protein KCTD7 3
  • CLN14 3
  • EPM3 3

External Ids for KCTD7 Gene

Previous GeneCards Identifiers for KCTD7 Gene

  • GC07P065505
  • GC07P065538
  • GC07P065731
  • GC07P066093
  • GC07P062278

Summaries for KCTD7 Gene

Entrez Gene Summary for KCTD7 Gene

  • This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

GeneCards Summary for KCTD7 Gene

KCTD7 (Potassium Channel Tetramerization Domain Containing 7) is a Protein Coding gene. Diseases associated with KCTD7 include Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions and Epilepsy Progressive Myoclonic Type 3. Among its related pathways are Innate Immune System and Neuropathic Pain-Signaling in Dorsal Horn Neurons. An important paralog of this gene is KCTD14.

UniProtKB/Swiss-Prot for KCTD7 Gene

  • May be involved in the control of excitability of cortical neurons.

Additional gene information for KCTD7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCTD7 Gene

Genomics for KCTD7 Gene

GeneHancer (GH) Regulatory Elements for KCTD7 Gene

Promoters and enhancers for KCTD7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I066625 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.5 +0.1 86 6.6 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B KCTD7 LOC100996437 RABGEF1 VKORC1L1 GS1-124K5.4 ENSG00000273448 SPDYE21P ENSG00000229180 ENSG00000244657 CCT6P1
GH07I066653 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +26.2 26188 3.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LOC100996437 RABGEF1 VKORC1L1 GS1-124K5.4 CRCP KCTD7 ENSG00000229180 TYW1 GC07M066657
GH07I066589 Enhancer 1.3 Ensembl ENCODE 12.7 -37.0 -37038 3.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ENSG00000229180 GS1-124K5.11 LOC100996437 VKORC1L1 CRCP RABGEF1 KCTD7 RPL35P5 CCT6P1 ENSG00000177418
GH07I066739 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 4.8 +112.6 112585 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 RABGEF1 ENSG00000272831 GC07P066740 LOC100996437 KCTD7 TMEM248 ENSG00000271064
GH07I066139 Enhancer 0.9 ENCODE 10.7 -487.1 -487103 4.2 PKNOX1 FOXA2 MLX ARID4B YY1 FOS RXRA SP5 NFYC REST LOC100996437 VKORC1L1 TPST1 RABGEF1 KCTD7 GC07P066141 PIR31229 ENSG00000234185 CRCP ENSG00000249319
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCTD7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCTD7 gene promoter:

Genomic Locations for KCTD7 Gene

Genomic Locations for KCTD7 Gene
20,301 bases
Plus strand

Genomic View for KCTD7 Gene

Genes around KCTD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCTD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCTD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCTD7 Gene

Proteins for KCTD7 Gene

  • Protein details for KCTD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    BTB/POZ domain-containing protein KCTD7
    Protein Accession:
    Secondary Accessions:
    • A4D2M4
    • Q8IVR0

    Protein attributes for KCTD7 Gene

    289 amino acids
    Molecular mass:
    33132 Da
    Quaternary structure:
    • Interacts with CUL3.

    Alternative splice isoforms for KCTD7 Gene


neXtProt entry for KCTD7 Gene

Post-translational modifications for KCTD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCTD7 Gene

Domains & Families for KCTD7 Gene

Gene Families for KCTD7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KCTD7 Gene

Suggested Antigen Peptide Sequences for KCTD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KCTD7: view

No data available for UniProtKB/Swiss-Prot for KCTD7 Gene

Function for KCTD7 Gene

Molecular function for KCTD7 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the control of excitability of cortical neurons.

Phenotypes From GWAS Catalog for KCTD7 Gene

Gene Ontology (GO) - Molecular Function for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22748208
genes like me logo Genes that share ontologies with KCTD7: view
genes like me logo Genes that share phenotypes with KCTD7: view

Human Phenotype Ontology for KCTD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCTD7 Gene

Localization for KCTD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCTD7 Gene

Cell membrane. Cytoplasm, cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCTD7 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 2
endosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22748208
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 22748208
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCTD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCTD7 Gene

Pathways & Interactions for KCTD7 Gene

genes like me logo Genes that share pathways with KCTD7: view

Interacting Proteins for KCTD7 Gene

Gene Ontology (GO) - Biological Process for KCTD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030007 cellular potassium ion homeostasis IEA --
GO:0032411 positive regulation of transporter activity IEA --
GO:0043687 post-translational protein modification TAS --
GO:0051260 protein homooligomerization IEA --
GO:0060081 membrane hyperpolarization IEA --
genes like me logo Genes that share ontologies with KCTD7: view

No data available for SIGNOR curated interactions for KCTD7 Gene

Drugs & Compounds for KCTD7 Gene

No Compound Related Data Available

Transcripts for KCTD7 Gene

Unigene Clusters for KCTD7 Gene

Potassium channel tetramerisation domain containing 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCTD7 Gene

No ASD Table

Relevant External Links for KCTD7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KCTD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCTD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KCTD7 Gene

This gene is overexpressed in Bone (62.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCTD7 Gene

Protein tissue co-expression partners for KCTD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCTD7 Gene:


SOURCE GeneReport for Unigene cluster for KCTD7 Gene:


Evidence on tissue expression from TISSUES for KCTD7 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCTD7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with KCTD7: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KCTD7 Gene

Orthologs for KCTD7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KCTD7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RABGEF1 34
  • 100 (a)
KCTD7 33
  • 99.31 (n)
(Bos Taurus)
Mammalia RABGEF1 34
  • 97 (a)
KCTD7 33
  • 92.16 (n)
(Mus musculus)
Mammalia Rabgef1 34
  • 96 (a)
Kctd7 33 16
  • 91.46 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 92 (a)
(Rattus norvegicus)
Mammalia Kctd7 33
  • 91.23 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
(Canis familiaris)
Mammalia -- 34
  • 63 (a)
(Gallus gallus)
Aves -- 34
  • 89 (a)
KCTD7 33
  • 75.32 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia kctd7 33
  • 71.63 (n)
(Danio rerio)
Actinopterygii kctd7 33
  • 71.28 (n)
rabgef1 34
  • 71 (a)
rabgef1l 34
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rabex-5 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea rabx-5 34
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS9 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1840 34
  • 34 (a)
Species where no ortholog for KCTD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCTD7 Gene

Gene Tree for KCTD7 (if available)
Gene Tree for KCTD7 (if available)

Paralogs for KCTD7 Gene

(12) SIMAP similar genes for KCTD7 Gene using alignment to 4 proteins: Pseudogenes for KCTD7 Gene

genes like me logo Genes that share paralogs with KCTD7: view

Variants for KCTD7 Gene

Sequence variations from dbSNP and Humsavar for KCTD7 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1017126185 uncertain-significance, Progressive myoclonic epilepsy 66,640,124(+) C/T 3_prime_UTR_variant, intron_variant
rs1033813919 uncertain-significance, Progressive myoclonic epilepsy 66,641,042(+) C/T 3_prime_UTR_variant
rs1056274213 uncertain-significance, Progressive myoclonic epilepsy 66,640,069(+) A/G 3_prime_UTR_variant, intron_variant
rs115778754 uncertain-significance, Progressive myoclonic epilepsy 66,640,851(+) A/G 3_prime_UTR_variant
rs116630203 likely-benign, benign, not specified 66,639,241(+) G/A/T 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCTD7 Gene

Variant ID Type Subtype PubMed ID
esv2665862 CNV deletion 23128226
esv2761151 CNV gain 21179565
esv3571890 CNV loss 25503493
esv3613515 CNV gain 21293372
esv3613516 CNV gain 21293372
esv3891135 CNV gain 25118596

Variation tolerance for KCTD7 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCTD7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCTD7 Gene

Disorders for KCTD7 Gene

MalaCards: The human disease database

(12) MalaCards diseases for KCTD7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCTD7 in MalaCards View complete list of genes associated with diseases


  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. {ECO:0000269 PubMed:17455289, ECO:0000269 PubMed:22606975, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:22693283, ECO:0000269 PubMed:22748208}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565). {ECO:0000269 PubMed:22638565}.

Additional Disease Information for KCTD7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCTD7: view

No data available for Genatlas for KCTD7 Gene

Publications for KCTD7 Gene

  1. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. (PMID: 22693283) Kousi M … Lehesjoki AE (Journal of medical genetics 2012) 3 4 58
  2. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. (PMID: 22748208) Staropoli JF … Cotman SL (American journal of human genetics 2012) 3 4 58
  3. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. (PMID: 21223598) Wineinger NE … Tiwari HK (BMC medical genomics 2011) 3 44 58
  4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. (PMID: 17455289) Van Bogaert P … Abramowicz MJ (Annals of neurology 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for KCTD7 Gene

Sources for KCTD7 Gene

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